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Kaplan, Leonard
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Del Gaudio, Daniela
One or more keywords matched the following items that are connected to
Del Gaudio, Daniela
Item Type
Name
Concept
Sequence Deletion
Academic Article
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.
Academic Article
Detection of clinically relevant exonic copy-number changes by array CGH.
Academic Article
Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.
Academic Article
Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.
Academic Article
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.
Search Criteria
Sequence Deletion